Varaico: Literature-Extracted Genetic Variants

USP9X

383 papers

RefSeq Summary

This gene is a member of the peptidase C19 family and encodes a protein that is similar to ubiquitin-specific proteases. Though this gene is located on the X chromosome, it escapes X-inactivation. Mut...

Pfam Domains

ARM_UBP24_USP9X-Yaa 329–753UCSCUBP24/USP9X/USP9Y ARM repeat

UCH_UBL1aa 886–972UCSCUbiquitin carboxyl-terminal hydrolases, Ubiquitin-like 1

UCHaa 1562–1958UCSCUbiquitin carboxyl-terminal hydrolase

DUF3517aa 2102–2464UCSCDomain of unknown function (DUF3517)

Gene Aliases

HGNC Name

ubiquitin specific peptidase 9 X-linked

HGNC Alias Symbols

DFFRX; FAF-X; MRX99

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001039591.3

p.R1799Q

c.5396G>A

Surrounding Variants

1 paper

NM_001039591.3

p.R1799L

c.5396G>T

3 papers

NM_001039591.3

p.K1798T

c.5393A>C

1 paper

NM_001039591.3

p.Y1802S

c.5405A>C

1 paper

NM_001039591.3

p.Q1796R

c.5387A>G

1 paper

NM_001039591.3

p.Y1802C

c.5405A>G

1 paper

NM_001039591.3

p.C1808S

c.5422T>A

1 paper

NM_001039591.3

p.C1808S

c.5423G>C

1 paper

NM_001039591.3

p.F1812_Y1815del4

c.5434_5444del12

2 papers

NM_001039591.3

p.R1783C

c.5347C>T

1 paper

NM_001039591.3

p.D1779G

c.5336A>G

1 paper

NM_001039591.3

p.R1820*

c.5458C>T

1 paper

NM_001039591.3

p.V1778I

c.5332G>A